The Mayer–Rokitansky–Kuster–Hauser and gonadal dysgenesis anomaly in a girl with 45,X/46,X,del(X)(p11.21)

Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature

“…Our extensive literature search revealed 23 such published reports till date. [ 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 ] One case report was published in French language and hence was not possible for us to analyze it[ 5 ] and one case report could not be retrieved, so it was not included in the review. [ 22 ] Hence, total of 21 published case reports involving 26 patients were analyzed here for presentation, phenotypical and karyotypic abnormalities.…”

“…In five case reports, there was history of consanguinity. [ 2 3 7 12 20 ] In 11 case reports, ovaries were absent[ 2 4 9 11 13 15 16 17 20 21 23 ] while in nine case reports ovaries were present, but dysgenetic. [ 1 3 7 8 12 14 18 19 20 ] There were three case reports, in which ovary on one side was either absent or dysgenetic and on the other side, it was normal.…”

“…[ 1 3 7 8 12 14 18 19 20 ] There were three case reports, in which ovary on one side was either absent or dysgenetic and on the other side, it was normal. [ 6 9 10 ] In 15 case reports, uterus was absent[ 1 3 4 6 7 8 10 13 14 15 16 18 19 21 23 ] while in others it was present, but hypoplastic. [ 2 3 9 11 12 17 20 ] Similarly, fallopian tubes were normal in four case reports[ 7 8 15 16 ] but most reported hypoplastic or rudimentary fallopian tubes.…”

“…[ 6 10 13 23 ] Skeletal abnormalities such as kyphosis, scoliosis, short phalanx or vertebral deformities were present in six case reports. [ 2 4 9 11 12 14 ] Four case reports including eight patients had alopecia. [ 2 3 12 20 ] Three cases had turner like features.…”

The clandestine uterus: or how the uterus escapes detection prior to puberty

“…There are a few reports in the literature of concomitant gonadal dysgenesis and uterine agenesis. However, this association is rare and is usually found in women who have Turner mosaics 6 or in women with multiple other congenital anomalies 7 . Furthermore, in most published reports, the participants are not followed up after induction of puberty to assess uterine size after estrogenisation 8 …”